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Neurocutaneous Disorders

 
 
   

What is the earliest skin sign of tuberous sclerosis?


Ash-leaf macule in an infant.
Fig. 5.4 Ash-leaf macule in an infant.
Hypomelanotic macules (Fig. 5-4). Frequently present at birth or in early infancy, these lesions are a helpful sign in infants with convulsions. Best seen with Wood’s lamp examination, they are polygonal or ash-leaf in shape, ranging in size from 1 to 3 cm and numbering 1 to 100. Occasionally, they are accompanied by 1- to 3-mm confetti-like white spots scattered over the trunk and limbs. Common skin signs of tuberous sclerosis include the following:
- Ash-leaf hypomelanotic macules
- Facial angiofibromas
- Periungual fibromas (Koenen’s tumors)
- Shagreen patch
- Forehead fibromatous plaque

 
 
 
     
 

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